A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040298



Internal ID18952434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50512480..50529762hg38UCSC Ensembl
Outerchr20:50509110..50530318hg38UCSC Ensembl
Innerchr20:49129017..49146299hg19UCSC Ensembl
Outerchr20:49125647..49146855hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3821209
hg1921209
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160682
Supporting Variants
Samples
Known GenesPTPN1
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nssv4040298
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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